Table 2.
Distribution of genotype frequencies of collectin genes in general Spanish population and H1N1pdm-infected patients
| Variants | Genotypes | General Spanish population | H1N1pdm-infected patients |
|---|---|---|---|
|
MBL2
a
|
|
n = 1736 |
n = 93 |
| rs1800451 (G57E) |
|
|
|
| rs1800450 (G54D) |
AA/AO/OO |
1,032 (59.4)/615(35.4)/89 (5.1) |
54 (58.1)/36 (38.7)/3 (3.2) |
| rs5030737 (R52C) |
|
|
|
| rs7096206 (Prom) |
|
|
|
| MBL deficiency |
AA + YAO/XAO + OO |
1,475 (85.0)/261 (15,0) |
77 (82.8)/16 (17.2) |
|
SFTPA2
|
|
n = 769 |
n = 93 |
| rs1965708 (Q223K) |
AA/CA/CC |
22 (2.9)/244 (31.7)/503 (65.4) |
4 (4.3)/33 (35.5)/56 (60.2) |
| rs17886395 (A91P) |
GG/GC/CC |
623 (81.0)/134 (17.4)/12 (1.6) |
72 (77.4)/19 (20.4)/2(2.2) |
| rs1059046 (T9N) |
CC/AC/AA |
97 (12.,6)/349 (45.4)/323 (42.0) |
14 (15.1)/48 (51.6)/31 (33.3) |
|
SFTPA1
|
|
n = 769 |
n = 93 |
| rs1059047 (V19A) |
TT/TC/CC |
680 (88.4)/88 (11.4)/1 (0.1) |
82 (88.2)/10 (10.8)/1 (1.1) |
| rs1136450 (L50V) |
CC/GC/GG |
117 (15.2)/334 (43.4)/318 (41.4) |
12 (12.9)/48 (51.6)/33 (35.5) |
| rs4253527 (R219W) |
CC/CT/TT |
620 (80.6)/142 (18.5)/7 (0.9) |
76 (81.7)/16 (17.2)/1 (1.1) |
|
SFTPD
|
|
n = 963 |
n = 93 |
| rs3088308 (S290T) |
AA/AT/TT |
829 (86.1)/129 (13.4)/5 (0.5) |
77 (82.8)/14 (15.1)/2 (2.1) |
| rs2243639 (T180A) |
TT/TC/CC |
373 (38.7)/449 (46.6)/141 (14.6) |
42 (45.2)/42 (45.2)/9 (9.6) |
| rs10887199 (Intr) |
TT/TC/CC |
759 (78.8)/189 (19.6)/15 (1.6) |
71 (76.3)/20 (21.5)/2 (2.2) |
| rs17886286 (Intr) |
CC/CG/G |
828 (86.0)/126 (13.1)/9 (0.9) |
79 (85.0)/13 (14.0)/1 (1.0) |
| rs7078012 (Intr) |
CC/CT/TT |
629 (65.3)/292 (30.3)/42 (4.4) |
52 (55,.)/38 (40.9)/3(3.2) |
| rs6413520 (S45S) |
AA/AG/GG |
824 (85.6)134 (13.9)/5 (0.5) |
82 (88.2)/11 (11.8)/0 (0.0) |
| rs721917 (M31T) |
TT/TC/CC |
356 (37.0)/438 (45.5)/169 (17.5) |
36 (38/.7)/38 (40.9)/19 (20.4) |
| rs723192 (Intr) |
CC/CT/TT |
757 (78.6)/195 (20.3)/11 (1.1) |
70 (75.3)/21 (22.6)/2 (2.1) |
| rs1885551 (Prom) | AA/AG/GG | 766 (79.5)/182 (18.9)/15 (1.6) | 72 (77.4)/19 (20.4)/2 (2.2) |
aO/O together with XA/O genotypes are considered MBL-deficient genotypes. Intr, intronic region; Prom, promoter region. SNPs were added on the basis of chromosome position.